Desnick RJ - Search Results

1

delta-Aminolevulinic acid dehydratase isozymes and lead toxicity.

Astrin KH, Bishop DF, Wetmur JG, Kaul B, Davidow B, Desnick RJ. Astrin KH, et al. Among authors: desnick rj. Ann N Y Acad Sci. 1987;514:23-9. doi: 10.1111/j.1749-6632.1987.tb48757.x. Ann N Y Acad Sci. 1987. PMID: 3442386

2

Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes.

Desnick RJ, Dean KJ, Grabowski G, Bishop DF, Sweeley CC. Desnick RJ, et al. Proc Natl Acad Sci U S A. 1979 Oct;76(10):5326-30. doi: 10.1073/pnas.76.10.5326. Proc Natl Acad Sci U S A. 1979. PMID: 228284 Free PMC article.

3

Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.

Sakuraba H, Eng CM, Desnick RJ, Bishop DF. Sakuraba H, et al. Among authors: desnick rj. Genomics. 1992 Apr;12(4):643-50. doi: 10.1016/0888-7543(92)90288-4. Genomics. 1992. PMID: 1315304

4

Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion.

Ioannou YA, Bishop DF, Desnick RJ. Ioannou YA, et al. Among authors: desnick rj. J Cell Biol. 1992 Dec;119(5):1137-50. doi: 10.1083/jcb.119.5.1137. J Cell Biol. 1992. PMID: 1332979 Free PMC article.

5

Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A.

Kornreich R, Astrin KH, Desnick RJ. Kornreich R, et al. Among authors: desnick rj. Genomics. 1992 May;13(1):70-4. doi: 10.1016/0888-7543(92)90203-5. Genomics. 1992. PMID: 1349583

6

RsaI polymorphism in the human delta-aminolevulinate dehydratase gene at 9q34.

Astrin KH, Kaya AH, Wetmur JG, Desnick RJ. Astrin KH, et al. Among authors: desnick rj. Nucleic Acids Res. 1991 Aug 11;19(15):4307. doi: 10.1093/nar/19.15.4307-a. Nucleic Acids Res. 1991. PMID: 1678509 Free PMC article. No abstract available.

7

Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning.

Wetmur JG, Kaya AH, Plewinska M, Desnick RJ. Wetmur JG, et al. Among authors: desnick rj. Am J Hum Genet. 1991 Oct;49(4):757-63. Am J Hum Genet. 1991. PMID: 1716854 Free PMC article.

8

The delta-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes.

Wetmur JG, Lehnert G, Desnick RJ. Wetmur JG, et al. Among authors: desnick rj. Environ Res. 1991 Dec;56(2):109-19. doi: 10.1016/s0013-9351(05)80001-5. Environ Res. 1991. PMID: 1769358

9

An atypical variant of Fabry's disease with manifestations confined to the myocardium.

von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hübner G, Olsen EG, Christomanou H, Kandolf R, Bishop DF, Desnick RJ. von Scheidt W, et al. Among authors: desnick rj. N Engl J Med. 1991 Feb 7;324(6):395-9. doi: 10.1056/NEJM199102073240607. N Engl J Med. 1991. PMID: 1846223 Free article. No abstract available.

10

Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3.

Astrin KH, Warner CA, Yoo HW, Goodfellow PJ, Tsai SF, Desnick RJ. Astrin KH, et al. Among authors: desnick rj. Hum Genet. 1991 May;87(1):18-22. doi: 10.1007/BF01213085. Hum Genet. 1991. PMID: 2037278

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